[CFTR-related disorders (CFTR-RD) : definition and illustration by a clinical case of reccurent acute pancreatitis in an adolescent].

The three components of the definition of CFTR-related disorders (CFTR-RD) recently proposed by European Cystic Fibrosis Society (ECFS) are the presence of specific clinical features, the exclusion of a diagnosis of cystic fibrosis (CF), and evidence of a partially functional CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein, whose activity deficit does not reach the diagnostic thresholds for CF. Among the phenotypes suggestive of CFTR-RD, recurrent acute pancreatitis (RAP) is frequently observed. We report the case of a 12-year-old girl presenting with multiple episodes of RAP, an intermediate sweat chloride test result, and two CFTR gene variants in probable compound heterozygosity (p.Phe508del/p.Arg1438Trp). This case highlights the diagnostic complexity of CFTR-RD and the importance of a multidimensional approach. Early recognition of these disorders is essential in the era of CFTR modulator therapies. Improved clinician awareness is necessary to optimize the diagnosis and management of these still underrecognized conditions.